RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Otorhinolaryngologic Diseases |
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Accession: | DOID:9007241
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browse the term
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Definition: | Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. |
Synonyms: | exact_synonym: | ENT Disease; ENT diseases; Otolaryngologic Disease; Otolaryngologic Diseases; Otolaryngological Disease; Otolaryngological Diseases; Otorhinolaryngological Disease; Otorhinolaryngological Diseases; otorhinolaryngologic disease |
| narrow_synonym: | throat disease |
| primary_id: | MESH:D010038 |
| xref: | EFO:0009479 |
| subset: | RGD_JBrowse_slim |
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Acat2 |
acetyl-CoA acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
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Agpat4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,525,131...48,633,798
Ensembl chr 1:48,527,323...48,633,345
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Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: MEGDEL syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
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Dynlt1 |
dynein light chain Tctex-type 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
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Ezr |
ezrin |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
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Fndc1 |
fibronectin type III domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259
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Gtf2h5 |
general transcription factor IIH subunit 5 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
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Igf2r |
insulin-like growth factor 2 receptor |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Map3k4 |
mitogen activated protein kinase kinase kinase 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,431,801...48,519,358
Ensembl chr 1:48,431,830...48,519,358
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Mas1 |
MAS1 proto-oncogene, G protein-coupled receptor |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709
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Mrpl18 |
mitochondrial ribosomal protein L18 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,837,169...47,841,987
Ensembl chr 1:47,836,561...47,841,987
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Plg |
plasminogen |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Pnldc1 |
PARN like ribonuclease domain containing exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,843,224...47,861,675
Ensembl chr 1:47,843,224...47,861,674
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Prkn |
parkin RBR E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Rsph3 |
radial spoke head 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
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Serac1 |
serine active site containing 1 |
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ISO ISS |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related neurological disorder OMIM:614739 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:26863999 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:29686941 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 PMID:37712079 More...
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NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
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Slc22a1 |
solute carrier family 22 member 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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Slc22a2 |
solute carrier family 22 member 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
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Slc22a3 |
solute carrier family 22 member 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,235,476...48,324,617
Ensembl chr 1:48,235,476...48,324,612
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Sod2 |
superoxide dismutase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sytl3 |
synaptotagmin-like 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460
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Tagap |
T-cell activation RhoGTPase activating protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
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Tcp1 |
t-complex 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,829,061...47,836,809
Ensembl chr 1:47,828,652...47,836,839
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Tmem181 |
transmembrane protein 181 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295
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Tulp4 |
TUB like protein 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688
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Wtap |
WT1 associated protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,665,965...47,691,067
Ensembl chr 1:47,665,965...47,691,065
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Tbx22 |
T-box transcription factor 22 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Abruzzo-Erickson syndrome |
OMIM CTD ClinVar |
PMID:839509 PMID:22784330 PMID:25741868 |
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NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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Aaas |
aladin WD repeat nucleoporin |
susceptibility |
ISO |
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RGD |
PMID:16098009 PMID:16098009 |
RGD:1598514, RGD:1598514 |
NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
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Lmna |
lamin A/C |
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ISS |
OMIM:200400 |
MouseDO |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Nos1 |
nitric oxide synthase 1 |
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ISS |
OMIM:200400 |
MouseDO |
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NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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RT1-Ba |
RT1 class II, locus Ba |
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ISO |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24997987 PMID:11837716 |
RGD:5147806 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb |
RT1 class II, locus Bb |
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ISO |
DNA:polymorphism (human) DNA:SNP::rs28688207 (human) DNA:polymorphism, haplotype CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24997987 PMID:11837716 PMID:30788115 PMID:30092016 |
RGD:5147806, RGD:14974238, RGD:14865011 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Spry2 |
sprouty RTK signaling antagonist 2 |
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ISS |
OMIM:200400 |
MouseDO |
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NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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Vipr1 |
vasoactive intestinal peptide receptor 1 |
onset |
ISO |
DNA:SNP:intron:rs437876 (human) |
RGD |
PMID:19309439 |
RGD:5685626 |
NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585
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Artn |
artemin |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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Bdnf |
brain-derived neurotrophic factor |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cav1 |
caveolin 1 |
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ISO |
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RGD |
PMID:20881564 |
RGD:8661782 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
mRNA,protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
DNA:snp:promoter:c.-1053C>T (human) |
RGD |
PMID:12540498 |
RGD:1358568 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
DNA:missense mutation:cds:p.D312N (rs1799793) (human) |
RGD |
PMID:20150366 |
RGD:5688735 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Fgfr1 |
Fibroblast growth factor receptor 1 |
disease_progression |
ISO |
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RGD |
PMID:15354013 |
RGD:11567268 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Igf1 |
insulin-like growth factor 1 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3 |
insulin-like growth factor binding protein 3 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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ISO |
protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Vegfa |
vascular endothelial growth factor A |
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ISO |
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RGD |
PMID:14660915 |
RGD:8547959 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Arpc4 |
actin related protein 2/3 complex, subunit 4 |
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ISO |
mRNA, protein:increased expression:mucosa of middle ear |
RGD |
PMID:26711468 |
RGD:11553828 |
NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
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Bmp1 |
bone morphogenetic protein 1 |
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ISO |
mRNA:increased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
mRNA:decreased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Bmp6 |
bone morphogenetic protein 6 |
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ISO |
mRNA:decreased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Bmp7 |
bone morphogenetic protein 7 |
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ISO |
mRNA:increased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
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Bmp8a |
bone morphogenetic protein 8a |
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ISO |
mRNA:decreased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr 5:135,589,839...135,617,785
Ensembl chr 5:135,591,716...135,617,785
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Cald1 |
caldesmon 1 |
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ISO |
mRNA, protein:decreased expression:mucosa of middle ear |
RGD |
PMID:26711468 |
RGD:11553828 |
NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932
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Col3a1 |
collagen type III alpha 1 chain |
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ISO |
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RGD |
PMID:10453785 |
RGD:11556224 |
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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Dstn |
destrin, actin depolymerizing factor |
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ISO |
mRNA, protein:increased expression:mucosa of middle ear |
RGD |
PMID:26711468 |
RGD:11553828 |
NCBI chr 3:131,284,647...131,311,361
Ensembl chr 3:131,284,648...131,311,379
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Fgf10 |
fibroblast growth factor 10 |
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ISO |
mRNA:decreased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Fgf3 |
fibroblast growth factor 3 |
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ISO |
mRNA:decreased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187
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Fgf6 |
fibroblast growth factor 6 |
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ISO |
mRNA:decreased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
mRNA:decreased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fn1 |
fibronectin 1 |
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ISO |
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RGD |
PMID:10453785 |
RGD:11556224 |
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Il17a |
interleukin 17A |
disease_progression |
IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:27497403 |
RGD:40818299 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il22 |
interleukin 22 |
disease_progression |
IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:27497403 |
RGD:40818299 |
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
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Lcp1 |
lymphocyte cytosolic protein 1 |
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ISO |
mRNA, protein:increased expression:mucosa of middle ear |
RGD |
PMID:26711468 |
RGD:11553828 |
NCBI chr15:50,443,300...50,544,682
Ensembl chr15:50,488,149...50,544,680
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Mapk8 |
mitogen-activated protein kinase 8 |
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ISO |
mRNA:decreased expression:middle ear (mouse) |
RGD |
PMID:21307808 |
RGD:150340689 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mmp2 |
matrix metallopeptidase 2 |
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ISO |
mRNA:increased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp3 |
matrix metallopeptidase 3 |
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ISO |
mRNA:increased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
mRNA:increased expression:middle ear (mouse) |
RGD |
PMID:21889218 |
RGD:127284853 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Ncf2 |
neutrophil cytosolic factor 2 |
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ISO |
mRNA, protein:increased expression:mucosa of middle ear |
RGD |
PMID:26711468 |
RGD:11553828 |
NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277
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S100a9 |
S100 calcium binding protein A9 |
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ISO |
mRNA, protein:increased expression:mucosa of middle ear |
RGD |
PMID:26711468 |
RGD:11553828 |
NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
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Aqp1 |
aquaporin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arid2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Arid4b |
AT-rich interaction domain 4B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906
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G |
Arid5b |
AT-rich interaction domain 5B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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Aspm |
assembly factor for spindle microtubules |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atr |
ATR serine/threonine kinase |
treatment |
ISO |
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RGD |
PMID:32001675 |
RGD:150340693 |
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532 |
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bcl11a |
BCL11 transcription factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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G |
Bcor |
BCL6 co-repressor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma |
CTD ClinVar |
PMID:23685749 |
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NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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G |
Bcorl1 |
BCL6 co-repressor-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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G |
Brd1 |
bromodomain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031
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G |
Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Cdh1 |
cadherin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17520682 |
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Cmtr2 |
cap methyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804
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G |
Cntn6 |
contactin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 4:137,354,886...137,751,712
Ensembl chr 4:137,355,367...137,751,119
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G |
Crebbp |
CREB binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma |
CTD ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Dapk1 |
death associated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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G |
Dtl |
denticleless E3 ubiquitin protein ligase homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr13:103,115,810...103,155,029
Ensembl chr13:103,117,186...103,154,890
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G |
Dtx4 |
deltex E3 ubiquitin ligase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 1:209,457,719...209,545,163
Ensembl chr 1:209,460,735...209,492,818
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G |
Efhd1 |
EF-hand domain family, member D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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G |
En1 |
engrailed homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943
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G |
Ep300 |
E1A binding protein p300 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Erbin |
erbb2 interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 2:34,926,962...35,028,440
Ensembl chr 2:34,928,863...35,027,852
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G |
Espl1 |
extra spindle pole bodies like 1, separase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 7:133,424,027...133,450,984
Ensembl chr 7:133,424,130...133,450,984
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G |
Fanca |
FA complementation group A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Fat1 |
FAT atypical cadherin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma |
CTD ClinVar |
PMID:23685749 PMID:26619011 |
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NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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G |
Fgf16 |
fibroblast growth factor 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
PMID:26619011 |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr4 |
fibroblast growth factor receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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G |
Foxo3 |
forkhead box O3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Foxp2 |
forkhead box P2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
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G |
Gas2 |
growth arrest-specific 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 1:101,452,361...101,582,619
Ensembl chr 1:101,482,591...101,582,619
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G |
Gas6 |
growth arrest specific 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
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G |
Gins2 |
GINS complex subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339
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G |
Gucy1a1 |
guanylate cyclase 1 soluble subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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G |
H1f4 |
H1.4 linker histone, cluster member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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G |
Homer3 |
homer scaffold protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma |
CTD ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23685749 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
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NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Igfbp2 |
insulin-like growth factor binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
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Il17rd |
interleukin 17 receptor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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G |
Insrr |
insulin receptor-related receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
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G |
Irx4 |
iroquois homeobox 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
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G |
Isyna1 |
inositol-3-phosphate synthase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979
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G |
Itgb4 |
integrin subunit beta 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
|
NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Jak3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:14615376 PMID:28492532 PMID:33040328 |
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Jmjd1c |
jumonji domain containing 1C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
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G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
|
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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G |
Kdm6a |
lysine demethylase 6A |
exacerbates |
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: (human) DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human) |
CTD RGD |
PMID:23685749 PMID:31483290 PMID:23685749 |
RGD:150429736, RGD:150429732 |
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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G |
Kdm6b |
lysine demethylase 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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G |
Kmt2c |
lysine methyltransferase 2C |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23685749 PMID:31483290 |
RGD:150429736 |
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22722830 PMID:23182985 PMID:23406027 PMID:25157968 PMID:26242988 PMID:28492532 More...
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NCBI chr 4:178,185,418...178,218,484
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Krt15 |
keratin 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr10:85,066,797...85,070,614
Ensembl chr10:85,066,802...85,171,799
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G |
Krt5 |
keratin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Magi1 |
membrane associated guanylate kinase, WW and PDZ domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 4:126,205,663...126,811,354
Ensembl chr 4:126,206,816...126,811,691
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Magi2 |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240
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Maml3 |
mastermind-like transcriptional coactivator 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814
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Map2k2 |
mitogen activated protein kinase kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Marcks |
myristoylated alanine rich protein kinase C substrate |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012
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Mark2 |
microtubule affinity regulating kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652
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Mecom |
MDS1 and EVI1 complex locus |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mga |
MAX dimerization protein MGA |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Mier2 |
MIER family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 7:10,153,501...10,169,381
Ensembl chr 7:10,153,649...10,169,378
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Mlc1 |
modulator of VRAC current 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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Morf4l1 |
mortality factor 4 like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519
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Myb |
MYB proto-oncogene, transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 PMID:26829750 |
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NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Mybl1 |
MYB proto-oncogene like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183
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Mycbp |
Myc binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 5:136,135,955...136,143,163
Ensembl chr 5:136,135,931...136,145,616
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Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Neto2 |
neuropilin and tolloid like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr19:21,344,299...21,415,524
Ensembl chr19:21,344,289...21,417,023
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Nfib |
nuclear factor I/B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479
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Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma |
CTD ClinVar |
PMID:23685749 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Ntrk3 |
neurotrophic receptor tyrosine kinase 3 |
treatment |
ISO |
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RGD |
PMID:23027130 |
RGD:150519921 |
NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
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Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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Pdzk1 |
PDZ domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514
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Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma |
CTD ClinVar |
PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 PMID:22658544 PMID:22949682 PMID:23685749 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28151489 PMID:28492532 PMID:29446767 PMID:34008892 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Prkdc |
protein kinase, DNA-activated, catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Pygb |
glycogen phosphorylase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 3:139,611,724...139,658,521
Ensembl chr 3:139,611,749...139,663,553
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Rbfox2 |
RNA binding fox-1 homolog 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
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Serpinf1 |
serpin family F member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Sf3b1 |
splicing factor 3b, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Slc24a3 |
solute carrier family 24 member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192
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Slc3a2 |
solute carrier family 3 member 2 |
disease_progression |
ISO |
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RGD |
PMID:23516127 |
RGD:151361211 |
NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931
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Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:23516127 |
RGD:151361211 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma |
CTD ClinVar |
PMID:23685749 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Son |
SON DNA and RNA binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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Sox11 |
SRY-box transcription factor 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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Sox4 |
SRY-box transcription factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Srcap |
Snf2-related CREBBP activator protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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St3gal4 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
ClinVar Annotator: match by term: Adenoid cystic carcinoma |
ClinVar |
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NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tlk1 |
tousled-like kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 3:55,520,559...55,627,580
Ensembl chr 3:55,503,358...55,691,968
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Top2a |
DNA topoisomerase II alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874
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Tp53 |
tumor protein p53 |
disease_progression |
ISO |
ClinVar Annotator: match by term: Adenocystic carcinoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 PMID:7885831 PMID:8023157 PMID:8080050 PMID:8364550 PMID:8869100 PMID:10713666 PMID:10871862 PMID:11479205 PMID:11782540 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12826609 PMID:14559903 PMID:16322298 PMID:16494995 PMID:16736287 PMID:16818505 PMID:16861262 PMID:17541742 PMID:17606709 PMID:17724467 PMID:18208484 PMID:18818522 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20522432 PMID:21343334 PMID:21514416 PMID:21519010 PMID:21626334 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23259501 PMID:23625637 PMID:23685749 PMID:24033266 PMID:24384472 PMID:24728327 PMID:25503501 PMID:25584008 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26585234 PMID:26619011 PMID:27276561 PMID:27463065 PMID:27489289 PMID:27533082 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28492532 PMID:28861920 PMID:29070607 PMID:29076966 PMID:29324801 PMID:29470806 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30327374 PMID:30630526 PMID:30720243 PMID:30840781 PMID:31119730 PMID:31775759 PMID:32019277 PMID:33332384 PMID:33372952 PMID:34805717 PMID:16249115 More...
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RGD:8547828 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Uhrf1 |
ubiquitin-like with PHD and ring finger domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23685749 |
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NCBI chr 9:1,133,117...1,154,639
Ensembl chr 9:1,134,909...1,154,631
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Vcan |
versican |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
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Wnt5b |
Wnt family member 5B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16762588 |
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NCBI chr 4:152,609,566...152,733,790
Ensembl chr 4:152,609,569...152,733,407
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Xrn2 |
5'-3' exoribonuclease 2 |
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ISO |
DNA:hypermethylation:3' utr: (human) |
RGD |
PMID:21692051 |
RGD:11041796 |
NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306
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Hnf1a |
HNF1 homeobox A |
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ISO |
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RGD |
PMID:10489374 |
RGD:150540314 |
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Aamp |
angio-associated, migratory cell protein |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
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Abcb6 |
ATP binding cassette subfamily B member 6 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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Ankzf1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469
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Arpc2 |
actin related protein 2/3 complex, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
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Asic4 |
acid sensing ion channel subunit family member 4 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
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Atg9a |
autophagy related 9A |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986
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Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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Catip |
ciliogenesis associated TTC17 interacting protein |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:75,945,960...75,953,618
Ensembl chr 9:75,945,961...75,953,607
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Cdk5r2 |
cyclin-dependent kinase 5 regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
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Cfap65 |
cilia and flagella associated protein 65 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
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Chpf |
chondroitin polymerizing factor |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
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Cnot9 |
CCR4-NOT transcription complex subunit 9 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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Cnppd1 |
cyclin Pas1/PHO80 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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G |
Cryba2 |
crystallin, beta A2 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
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Ctdsp1 |
CTD small phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
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|
G |
Cxcr1 |
C-X-C motif chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
|
|
G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
|
|
G |
Cyp27a1 |
cytochrome P450, family 27, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
|
|
G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
|
|
G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
|
|
G |
Dnpep |
aspartyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
|
|
G |
Fev |
FEV transcription factor, ETS family member |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
|
|
G |
Glb1l |
galactosidase, beta 1-like |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
|
|
G |
Gmppa |
GDP-mannose pyrophosphorylase A |
|
ISO ISS |
OMIM:615510 ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
OMIM MouseDO ClinVar |
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478 |
|
NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
|
|
G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,860,758...75,863,260
Ensembl chr 9:75,860,677...75,863,168
|
|
G |
Ihh |
Indian hedgehog signaling molecule |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
|
|
G |
Mir26b |
microRNA 26b |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
|
|
G |
Mir375 |
microRNA 375 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
|
|
G |
Nhej1 |
nonhomologous end-joining factor 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
|
|
G |
Obsl1 |
obscurin like cytoskeletal adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
|
|
G |
Plcd4 |
phospholipase C, delta 4 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
|
|
G |
Pnkd |
PNKD metallo-beta-lactamase domain containing |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
|
|
G |
Prkag3 |
protein kinase AMP-activated non-catalytic subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
|
|
G |
Ptprn |
protein tyrosine phosphatase, receptor type, N |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
|
|
G |
Resp18 |
regulated endocrine-specific protein 18 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
|
|
G |
Retreg2 |
reticulophagy regulator family member 2 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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|
G |
Rnf25 |
ring finger protein 25 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
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|
G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
|
|
G |
Slc23a3 |
solute carrier family 23, member 3 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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|
G |
Speg |
striated muscle enriched protein kinase |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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|
G |
Stk16 |
serine/threonine kinase 16 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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|
G |
Stk36 |
serine/threonine kinase 36 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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|
G |
Tmbim1 |
transmembrane BAX inhibitor motif containing 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
|
|
G |
Tmem198 |
transmembrane protein 198 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
|
|
G |
Ttll4 |
tubulin tyrosine ligase like 4 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
|
|
G |
Tuba4a |
tubulin, alpha 4A |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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|
G |
Usp37 |
ubiquitin specific peptidase 37 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
|
|
G |
Vil1 |
villin 1 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
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|
G |
Wnt10a |
Wnt family member 10A |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
|
|
G |
Wnt6 |
Wnt family member 6 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
|
|
G |
Zfand2b |
zinc finger AN1-type containing 2B |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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|
G |
Zfp142 |
zinc finger protein 142 |
|
ISO |
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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|
|
G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
severity |
ISO |
DNA:snp:exon:c.1236C>T (human) |
RGD |
PMID:24040855 |
RGD:8657076 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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|
G |
Ace |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:15112973 |
RGD:8142345 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
IEP |
mRNA, protein:increased expression:nasal mucosa (rat) |
RGD |
PMID:15362690 |
RGD:11522724 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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|
G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29028686 |
|
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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|
G |
Ccl11 |
C-C motif chemokine ligand 11 |
treatment |
IDA |
|
RGD |
PMID:23089405 |
RGD:7248414 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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|
G |
Ccl26 |
C-C motif chemokine ligand 26 |
|
ISO |
protein:increased expression:oronasal secretion (human) |
RGD |
PMID:23883806 |
RGD:7364793 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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|
G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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|
G |
Cldn3 |
claudin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33441633 |
|
NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001
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|
G |
Cldn7 |
claudin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33441633 |
|
NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
|
RGD |
PMID:10436391 |
RGD:11344920 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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|
G |
F2 |
coagulation factor II, thrombin |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:21711961 |
RGD:5147783 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
|
|
G |
Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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|
G |
Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
|
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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|
G |
Gria2 |
glutamate ionotropic receptor AMPA type subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34624383 |
|
NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510
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|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36127783 |
|
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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|
G |
Hrh1 |
histamine receptor H 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23333628 |
|
NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455
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|
G |
Ifng |
interferon gamma |
treatment |
ISO IDA |
associated with Asthma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29871060 PMID:12787306 PMID:18510219 |
RGD:7829803, RGD:10755770 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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|
G |
Il10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:36127783 PMID:23883806 PMID:23253209 |
RGD:7364793, RGD:7364818 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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|
G |
Il13 |
interleukin 13 |
susceptibility no_association |
ISO |
DNA:polymorphism:exon:c. 2044G>A (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R130Q (rs20541) (human) DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) DNA:SNP:promoter:-1512A>C (rs1881457) (human) |
CTD OMIM RGD |
PMID:17091279 PMID:22852128 PMID:12928861 PMID:23996716 |
RGD:4152796, RGD:8549518, RGD:8549516, RGD:8549501 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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|
G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 |
RGD:8549521 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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|
G |
Il17a |
interleukin 17A |
susceptibility |
ISO |
DNA:snp:promoter:c.-444A>G (human) mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:22507625 PMID:21535180 |
RGD:9068429, RGD:5147409 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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|
G |
Il18 |
interleukin 18 |
severity no_association |
ISO |
DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human) |
RGD |
PMID:22840759 PMID:22840759 |
RGD:8655914, RGD:8655914 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:7750009 |
RGD:7401199 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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|
G |
Il2 |
interleukin 2 |
|
IEP |
|
RGD |
PMID:12592663 |
RGD:8662963 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
|
|
G |
Il4 |
interleukin 4 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:36127783 PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048 |
RGD:7829796, RGD:11522769, RGD:7829827, RGD:7829802 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
|
|
G |
Il5 |
interleukin 5 |
treatment |
IEP |
|
RGD |
PMID:23934070 PMID:24620662 |
RGD:11354976, RGD:11522769 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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|
G |
Itgb2 |
integrin subunit beta 2 |
treatment |
IEP |
|
RGD |
PMID:12046991 |
RGD:9698435 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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|
G |
Mrc1 |
mannose receptor, C type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36127783 |
|
NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857
|
|
G |
Muc1 |
mucin 1, cell surface associated |
severity |
ISO IMP IEP |
mRNA,protein:decreased expression:nasal mucosa |
RGD |
PMID:31425778 PMID:31425778 PMID:31425778 |
RGD:127345100, RGD:127345100, RGD:127345100 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
|
|
G |
Muc1em1Cgen |
mucin 1, cell surface associated; TALEN induced mutant 1, Cgen |
severity |
IMP |
|
RGD |
PMID:31425778 |
RGD:127345100 |
|
|
G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
IEP |
mRNA, protein:increased expression:nasal cavity epithelium |
RGD |
PMID:22972875 |
RGD:7364746 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
|
|
G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
mRNA:increased expression:nasal mucosa (human) |
RGD |
PMID:23858718 |
RGD:8547523 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Ocln |
occludin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33441633 |
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NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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G |
Pon1 |
paraoxonase 1 |
severity |
ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:23406590 |
RGD:8547583 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Prkg1 |
protein kinase cGMP-dependent 1 |
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IEP |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:24012634 |
RGD:7775060 |
NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16979129 |
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NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
RT1-M3-1 |
RT1 class Ib, locus M3, gene 1 |
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ISO |
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RGD |
PMID:20487636 |
RGD:5144132 |
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
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ISO |
mRNA:decreased expression:nasal mucosa, lung |
RGD |
PMID:17882576 |
RGD:5144135 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility |
ISO |
DNA:SNP: :rs7726552 (human) |
RGD |
PMID:21410962 |
RGD:5144225 |
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
mRNA:increased expression:nasal mucosa (mouse) |
RGD |
PMID:21339035 |
RGD:8547809 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Tacr1 |
tachykinin receptor 1 |
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IEP |
mRNA:increased expression:nasal mucosa |
RGD |
PMID:12768696 |
RGD:5147835 |
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
IEP |
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RGD |
PMID:31368266 |
RGD:14995445 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tlr2 |
toll-like receptor 2 |
severity |
ISO |
DNA:polymorphism:cds:p.R753Q(human) protein:increased expression:neutrophil: mRNA:decreased expression:nasal mucosa: |
RGD |
PMID:22402138 PMID:22555057 PMID:18381801 PMID:18219831 |
RGD:7800732, RGD:8552993, RGD:8552972, RGD:7800742 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
severity treatment susceptibility no_association |
ISO |
DNA:polymorphism:cds:p.D299G(human) protein:increased expression:nasal lavage,leukocyte, bone marrow: protein:decreased expression:nasal mucosa: DNA:SNP: :rs1927911(human) DNA:polymorphism: :4216G>C(human) |
RGD |
PMID:22402138 PMID:22555057 PMID:22577387 PMID:17069098 PMID:23639307 PMID:19763595 More...
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RGD:7800732, RGD:8552993, RGD:7800740, RGD:7800738, RGD:7800736, RGD:4145354 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr9 |
toll-like receptor 9 |
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ISO |
protein:decreased expression:nasal mucosa: |
RGD |
PMID:22577387 |
RGD:7800740 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Cyp2c6 |
cytochrome P450, family 2, subfamily C, polypeptide 6 |
treatment |
ISO |
associated with Eosinophilic Esophagitis; DNA:polymorphisms:: |
RGD |
PMID:26416193 |
RGD:11352743 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Il3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) |
RGD |
PMID:23953855 |
RGD:13506915 |
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Mt-co1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868 PMID:32906214 More...
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NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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G |
Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
ClinVar |
PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 PMID:8817331 PMID:9039999 PMID:9111378 PMID:9164619 PMID:9315872 PMID:9391883 PMID:9490575 PMID:9779807 PMID:9831149 PMID:9887373 PMID:9915970 PMID:9950117 PMID:10521300 PMID:10577941 PMID:10633132 PMID:10661905 PMID:10788333 PMID:10915767 PMID:11174059 PMID:11230176 PMID:11388757 PMID:11857751 PMID:11870684 PMID:12031626 PMID:12054632 PMID:12127547 PMID:12372057 PMID:12624722 PMID:12655418 PMID:12920080 PMID:12939650 PMID:12955586 PMID:14699607 PMID:14755216 PMID:15708009 PMID:15841390 PMID:15917167 PMID:16152638 PMID:16168391 PMID:16375862 PMID:16458854 PMID:16631122 PMID:16826519 PMID:16935512 PMID:16955413 PMID:17341440 PMID:17637808 PMID:17698299 PMID:17723226 PMID:17999439 PMID:18386806 PMID:18790089 PMID:18820594 PMID:18830133 PMID:18983818 PMID:19196684 PMID:19196685 PMID:19376484 PMID:19475720 PMID:19687236 PMID:19818876 PMID:19835846 PMID:20100600 PMID:20111055 PMID:20172897 PMID:20301595 PMID:20353758 PMID:20416460 PMID:21047563 PMID:21162657 PMID:21205314 PMID:21329993 PMID:21495045 PMID:21504270 PMID:21725156 PMID:21777984 PMID:21811586 PMID:21828074 PMID:22223843 PMID:22475488 PMID:22879993 PMID:22992668 PMID:23256547 PMID:23525847 PMID:24033266 PMID:24252789 PMID:24651602 PMID:24703164 PMID:25155176 PMID:25515069 PMID:25741868 PMID:25744662 PMID:26497601 PMID:26822237 PMID:27427311 PMID:28049726 PMID:28520359 PMID:29805548 PMID:32906214 More...
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NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G |
Trmu |
tRNA mitochondrial 2-thiouridylase |
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ISO |
ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 PMID:21153446 PMID:21169334 PMID:21931168 PMID:23625533 PMID:25665837 PMID:25741868 PMID:26633542 PMID:28049726 PMID:28252636 PMID:28492532 PMID:28973083 PMID:30369941 PMID:30740308 PMID:31160058 PMID:32445240 PMID:33365252 PMID:33485800 PMID:34052969 PMID:36305855 PMID:38113276 More...
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NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355
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G |
Matr3 |
matrin 3 |
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ISO ISS |
OMIM:606070 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2 |
OMIM MouseDO CTD ClinVar |
PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 PMID:25154462 PMID:25185957 PMID:25677933 PMID:25741868 PMID:25771394 PMID:25952333 PMID:26467025 PMID:26493020 PMID:26528920 PMID:26780671 PMID:28029397 PMID:28492532 PMID:29109432 PMID:30015619 PMID:30563574 PMID:31019288 PMID:32028661 More...
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NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
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G |
Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia |
CTD ClinVar OMIM |
PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 PMID:11321738 PMID:16353241 PMID:23143600 PMID:23432817 PMID:23852095 PMID:25741868 PMID:26440771 PMID:26467025 PMID:26842768 PMID:28067909 PMID:28067911 PMID:28492532 PMID:31243061 PMID:31312724 More...
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NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) |
RGD |
PMID:17701896 |
RGD:12910562 |
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision |
OMIM CTD ClinVar |
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 More...
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NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G |
Slc29a3 |
solute carrier family 29 member 3 |
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ISO |
ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome |
ClinVar |
PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 PMID:22875837 PMID:23530176 PMID:25741868 PMID:27143505 PMID:27364927 PMID:28492532 PMID:29041934 PMID:29751792 PMID:29808591 PMID:31464584 More...
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NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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G |
RT1-Da |
RT1 class II, locus Da |
susceptibility |
ISO |
DNA:SNPs,haplotype:introns: |
RGD |
PMID:22391069 |
RGD:13506908 |
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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G |
Tbx21 |
T-box transcription factor 21 |
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ISO |
ClinVar Annotator: match by term: Asthma and nasal polyps |
ClinVar |
PMID:15806396 |
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NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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G |
Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance |
ClinVar |
PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255 |
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NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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G |
Ltc4s |
leukotriene C4 synthase |
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ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance |
ClinVar |
PMID:25741868 |
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NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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G |
Ptger2 |
prostaglandin E receptor 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
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G |
Tbx21 |
T-box transcription factor 21 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:25741868 |
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NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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G |
Hoxa1 |
homeobox A1 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:601536 ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome DNA:mutations:cds:185delG,175-176insG,76C>T(human) |
CTD MouseDO ClinVar OMIM RGD |
PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 PMID:18412118 More...
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RGD:11553818 |
NCBI chr 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504
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G |
Hoxa2 |
homeobox A2 |
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ISO |
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Cdh2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:28492532 |
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NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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G |
Fdxr |
ferredoxin reductase |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony |
ClinVar |
PMID:25741868 PMID:28965846 PMID:29040572 |
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NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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G |
Kif5a |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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G |
Nefl |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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G |
Notch3 |
notch receptor 3 |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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G |
Opa1 |
OPA1, mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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G |
Otof |
otoferlin |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:18381613 PMID:19250381 PMID:22575033 PMID:26818607 PMID:28492532 |
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NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
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G |
Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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G |
Slc52a3 |
solute carrier family 52 member 3 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32579787 |
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NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
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G |
Timm8a1 |
translocase of inner mitochondrial membrane 8A1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30634948 |
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NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30818899 |
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10578459 |
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NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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G |
Vsx1 |
visual system homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15051220 |
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NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
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G |
Fscn2 |
fascin actin-bundling protein 2, retinal |
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ISS |
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MouseDO |
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NCBI chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322
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G |
Slc26a2 |
solute carrier family 26 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18925670 |
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NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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G |
Edn1 |
endothelin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Gnai3 |
G protein subunit alpha i3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 2:195,742,765...195,780,720
Ensembl chr 2:195,742,642...195,780,742
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G |
Plcb4 |
phospholipase C, beta 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Auriculocondylar syndrome |
CTD ClinVar |
PMID:16114046 PMID:22560091 PMID:23315542 PMID:25741868 |
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NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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G |
Gnai3 |
G protein subunit alpha i3 |
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ISO |
ClinVar Annotator: match by term: Auriculocondylar syndrome 1 |
OMIM ClinVar |
PMID:11102934 PMID:22560091 PMID:23315542 PMID:25026904 PMID:25741868 PMID:38177409 More...
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NCBI chr 2:195,742,765...195,780,720
Ensembl chr 2:195,742,642...195,780,742
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G |
Plcb4 |
phospholipase C, beta 4 |
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ISO |
ClinVar Annotator: match by term: Auriculocondylar syndrome 1 |
ClinVar |
PMID:16114046 PMID:18314001 PMID:22560091 PMID:23315542 PMID:25741868 |
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NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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G |
Plcb4 |
phospholipase C, beta 4 |
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ISO |
ClinVar Annotator: match by term: AURICULOCONDYLAR SYNDROME 2A | ClinVar Annotator: match by term: Auriculocondylar syndrome 2 |
OMIM ClinVar |
PMID:16114046 PMID:18314001 PMID:18680186 PMID:18686566 PMID:19152421 PMID:22286465 PMID:22560091 PMID:23315542 PMID:25741868 PMID:28492532 PMID:31186267 PMID:31395954 PMID:33258288 More...
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NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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G |
Edn1 |
endothelin 1 |
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ISO |
ClinVar Annotator: match by term: Auriculocondylar syndrome 3 |
OMIM ClinVar |
PMID:12244558 PMID:17357073 PMID:18288492 PMID:23315542 PMID:24268655 PMID:25741868 PMID:28492532 More...
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NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Hdac9 |
histone deacetylase 9 |
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ISO |
ClinVar Annotator: match by term: Auriculocondylar syndrome 4 |
OMIM ClinVar |
PMID:18000524 PMID:34750192 |
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NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333
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G |
Hyal3 |
hyaluronidase 3 |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
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G |
Naa80 |
N(alpha)-acetyltransferase 80, NatH catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
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G |
Diaph3 |
diaphanous-related formin 3 |
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ISO ISS |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition OMIM:609129 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 PMID:26467025 PMID:27658576 PMID:28492532 More...
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NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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G |
Atp11a |
ATPase phospholipid transporting 11A |
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ISO |
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OMIM |
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NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
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G |
Tmem43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 |
OMIM ClinVar |
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 PMID:23161701 PMID:23178689 PMID:23299917 PMID:23555315 PMID:23812740 PMID:23861362 PMID:24033266 PMID:25343256 PMID:25351510 PMID:25676813 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26743238 PMID:26840987 PMID:28301460 PMID:28492532 PMID:29311375 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32880476 PMID:33087929 PMID:34050020 PMID:35063694 PMID:37477868 More...
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NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy |
OMIM CTD ClinVar |
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 PMID:21532572 PMID:22328086 PMID:23365052 PMID:25326637 PMID:25678562 PMID:25741868 PMID:28334952 PMID:28492532 PMID:30165906 PMID:31984424 More...
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Atp6v1b2 |
ATPase H+ transporting V1 subunit B2 |
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ISO ISS |
OMIM:124480 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant |
OMIM MouseDO CTD ClinVar |
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 |
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NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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G |
Dspp |
dentin sialophosphoprotein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 DNA:missense mutations:cds:p.P17T, p.V18P (human) |
OMIM CTD ClinVar RGD |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:11175790 More...
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RGD:12910984 |
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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G |
Myh14 |
myosin heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4 |
ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27068579 PMID:27393652 PMID:27610647 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 PMID:31393079 PMID:34681017 More...
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NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
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G |
Ccdc138 |
coiled-coil domain containing 138 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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G |
Edar |
ectodysplasin-A receptor |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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G |
Gcc2 |
GRIP and coiled-coil domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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G |
Lims1 |
LIM zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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G |
Ranbp2 |
RAN binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Slc5a7 |
solute carrier family 5 member 7 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 PMID:33250374 PMID:36703223 More...
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NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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G |
Sult1c2a |
sulfotransferase family 1C member 2A |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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G |
Sult1c3 |
sulfotransferase family 1C member 3 |
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ISO |
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A |
ClinVar |
PMID:28492532 |
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NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO ISS |
p.S17F(mouse) ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant OMIM:148210 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.D50N (human) p.G45E(mouse) DNA:mutation:cds:p.N14K(human) DNA:mutations:cds:p.G11E,p.D50N(human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20629838 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23447037 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34008892 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:36474027 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:20926451 PMID:23924173 PMID:22031297 PMID:18950394 PMID:20307501 More...
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RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 |
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Atoh1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss |
ClinVar |
PMID:25741868 PMID:33111345 |
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NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
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G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
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NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
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G |
Diablo |
diablo, IAP-binding mitochondrial protein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387
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G |
Greb1l |
GREB1 like retinoic acid receptor coactivator |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:32585897 |
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NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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G |
Myo6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
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P2rx2 |
purinergic receptor P2X 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:30311386 |
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NCBI chr12:46,338,979...46,342,891
Ensembl chr12:46,339,549...46,342,891
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G |
Pde1c |
phosphodiesterase 1C |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:29860631 |
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NCBI chr 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219
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G |
Pls1 |
plastin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:30872814 PMID:31397523 |
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NCBI chr 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195
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G |
Six1 |
SIX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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G |
Diaph1 |
diaphanous-related formin 1 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25342930 PMID:25558065 PMID:25640679 PMID:25741868 PMID:26011067 PMID:26463574 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:28983057 PMID:29758562 PMID:30311386 PMID:30896630 PMID:32678080 PMID:33176815 PMID:33229591 PMID:33662367 PMID:34125151 PMID:34279089 PMID:35307828 PMID:36118902 More...
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NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
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Ecscr |
endothelial cell surface expressed chemotaxis and apoptosis regulator |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
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NCBI chr18:27,309,711...27,319,106
Ensembl chr18:27,309,718...27,319,032
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G |
Eif4ebp3 |
eukaryotic translation initiation factor 4E binding protein 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
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NCBI chr18:28,263,089...28,268,033
Ensembl chr18:28,162,311...28,268,024
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G |
Eya4 |
EYA transcriptional coactivator and phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 PMID:17568404 PMID:17576681 PMID:23861362 PMID:23990876 PMID:24033266 PMID:25681523 PMID:25741868 PMID:25781927 PMID:25963406 PMID:26084686 PMID:27068579 PMID:28492532 PMID:28798025 PMID:28831623 PMID:29030401 PMID:30165862 PMID:30311386 PMID:30828794 PMID:32107406 PMID:32277154 PMID:33745059 PMID:35802133 PMID:36633841 More...
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NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
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G |
Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 11 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16400615 PMID:16449806 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19461658 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21738395 PMID:21873662 PMID:22135276 PMID:22681893 PMID:22690115 PMID:22785243 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23383098 PMID:23451214 PMID:23451239 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:25080338 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26467025 PMID:26486028 PMID:26633542 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27610647 PMID:27729122 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28041643 PMID:28472130 PMID:28492532 PMID:28802369 PMID:28944237 PMID:29048421 PMID:29196752 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30459346 PMID:30718709 PMID:30828346 PMID:30881389 PMID:31152317 PMID:31456290 PMID:31479088 PMID:31964843 PMID:32097363 PMID:32681043 PMID:32795431 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33724713 PMID:34416374 PMID:34426522 PMID:34652575 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36555390 PMID:36633841 PMID:36672771 More...
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NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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G |
Tecta |
tectorin alpha |
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ISO ISS |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 OMIM:601543 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 PMID:11333869 PMID:12021773 PMID:12162770 PMID:12746400 PMID:16199547 PMID:16718611 PMID:17431902 PMID:17576681 PMID:17661817 PMID:18381613 PMID:18575463 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:22980975 PMID:23967202 PMID:24033266 PMID:24130743 PMID:24586623 PMID:25008054 PMID:25262649 PMID:25741868 PMID:26467025 PMID:27068579 PMID:27627659 PMID:27848944 PMID:28000701 PMID:28492532 PMID:28946916 PMID:29196752 PMID:29293505 PMID:30311386 PMID:30935366 PMID:31163360 PMID:31554319 PMID:32747562 PMID:32853555 PMID:33111345 PMID:33297549 PMID:34008892 PMID:34325055 PMID:34795337 More...
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NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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G |
Col11a2 |
collagen type XI alpha 2 chain |
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ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal dominant 13 OMIM:601868 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26969326 PMID:28492532 PMID:29907799 PMID:33105617 PMID:35802133 PMID:36633841 More...
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Pou4f3 |
POU class 4 homeobox 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition |
OMIM ClinVar |
PMID:9506947 PMID:12522684 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 PMID:24033266 PMID:24260153 PMID:25741868 PMID:26467025 PMID:27535032 PMID:28492532 PMID:29850532 PMID:30311386 PMID:32684921 PMID:32747562 PMID:34250087 PMID:37537203 More...
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NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797
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G |
Strc |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 |
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NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
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G |
Myh9 |
myosin, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 PMID:10973259 PMID:10973260 PMID:11023810 PMID:11159552 PMID:11590545 PMID:11752022 PMID:11776386 PMID:11935325 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15339844 PMID:16098078 PMID:16162639 PMID:16818291 PMID:16969870 PMID:17146397 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:19557653 PMID:20002731 PMID:20301740 PMID:20416459 PMID:20588287 PMID:21542825 PMID:21908426 PMID:22123909 PMID:22477015 PMID:22627578 PMID:22995991 PMID:23144074 PMID:23207509 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25949529 PMID:26056797 PMID:26226608 PMID:26346198 PMID:26387855 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:29532554 PMID:29782633 PMID:29907799 PMID:30245029 PMID:30311386 PMID:30471777 PMID:30556268 PMID:30712057 PMID:30720677 PMID:30916803 PMID:31064749 PMID:32100410 PMID:32545517 PMID:32604935 PMID:32757236 PMID:33532864 PMID:33710140 PMID:34355501 PMID:36100708 PMID:36646731 More...
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NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Actg1 |
actin, gamma 1 |
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ISO |
ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 PMID:16773128 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19477959 PMID:19548389 PMID:20301607 PMID:22200607 PMID:22366783 PMID:23506231 PMID:24033266 PMID:25052316 PMID:25741868 PMID:25792668 PMID:26188271 PMID:26467025 PMID:27240540 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29907799 PMID:29986705 PMID:30008475 PMID:30311386 PMID:30622556 PMID:31116477 PMID:31231230 PMID:32028042 PMID:32341388 PMID:33584783 PMID:33604570 PMID:34448047 PMID:35802133 PMID:36633841 More...
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NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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G |
Ripor2 |
RHO family interacting cell polarization regulator 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 21 |
OMIM CTD ClinVar |
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 |
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NCBI chr17:40,323,748...40,547,482
Ensembl chr17:40,323,867...40,548,092
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G |
Myo6 |
myosin VI |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM:606346 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:16199547 PMID:17576681 PMID:18212818 PMID:18348273 PMID:23767834 PMID:24033266 PMID:24123366 PMID:25080041 PMID:25741868 PMID:25741877 PMID:25999546 PMID:26445815 PMID:26467025 PMID:26969326 PMID:28492532 PMID:28501645 PMID:30311386 PMID:30582396 PMID:31589614 PMID:32143290 PMID:32747562 PMID:33279834 PMID:33297549 PMID:33724713 PMID:35802133 PMID:35982127 PMID:36633841 More...
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NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
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G |
Six1 |
SIX homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 23 |
OMIM CTD ClinVar |
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 PMID:19497856 PMID:21254961 PMID:21280147 PMID:21700001 PMID:23435380 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25788563 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
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NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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G |
Slc17a8 |
solute carrier family 17 member 8 |
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ISO ISS |
OMIM:605583 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 25 |
OMIM MouseDO CTD ClinVar |
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26797701 PMID:28492532 PMID:33229591 More...
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NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISS |
OMIM:605583 |
MouseDO |
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Rest |
RE1-silencing transcription factor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 |
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NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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G |
Grhl2 |
grainyhead-like transcription factor 2 |
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ISO |
DNA:nonsense mutation:exon: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 28 |
CTD ClinVar OMIM RGD |
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 PMID:12393799 More...
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RGD:1599382 |
NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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G |
Kcnq4 |
potassium voltage-gated channel subfamily Q member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 PMID:10571947 PMID:10925378 PMID:11450843 PMID:11915881 PMID:12112653 PMID:15699719 PMID:16596322 PMID:17576681 PMID:18030493 PMID:18786918 PMID:18797286 PMID:18941426 PMID:20301388 PMID:20832469 PMID:20966080 PMID:21242547 PMID:21951272 PMID:22384008 PMID:22420747 PMID:23451214 PMID:23717403 PMID:23750663 PMID:24033266 PMID:25116015 PMID:25741868 PMID:26036578 PMID:26467025 PMID:26515070 PMID:27068579 PMID:28492532 PMID:30311386 PMID:30413759 PMID:31028865 PMID:31995783 PMID:32382995 PMID:34622280 More...
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NCBI chr 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932
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G |
Gjb3 |
gap junction protein, beta 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 2b |
CTD ClinVar OMIM |
PMID:9843210 PMID:12019212 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 PMID:24033266 PMID:25214170 PMID:25741868 PMID:28492532 PMID:29106878 PMID:31564438 PMID:32645618 More...
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NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980
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G |
Myo3a |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 30 |
ClinVar |
PMID:32519820 |
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NCBI chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042
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G |
Atp11a |
ATPase phospholipid transporting 11A |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:30311386 PMID:35278131 |
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NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
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G |
Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation |
OMIM ClinVar |
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:21810457 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27612399 PMID:27994174 PMID:28492532 PMID:28692792 PMID:28847925 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 PMID:33329557 More...
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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G |
Tmc1 |
transmembrane channel-like 1 |
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ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition OMIM:606705 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 PMID:16287143 PMID:17250663 PMID:17576681 PMID:17877751 PMID:18414213 PMID:18616530 PMID:19180119 PMID:19187973 PMID:20373850 PMID:21250555 PMID:21252500 PMID:22105175 PMID:22607986 PMID:23208854 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24827932 PMID:24949729 PMID:25388789 PMID:25741868 PMID:26011067 PMID:26467025 PMID:28492532 PMID:28501645 PMID:29533536 PMID:30303587 PMID:30311386 PMID:30896630 PMID:31028865 PMID:31541171 PMID:31854501 PMID:32747562 PMID:33095980 PMID:33168709 PMID:33524517 PMID:33724713 PMID:34523024 PMID:38066485 More...
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NCBI chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955
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G |
Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 |
ClinVar |
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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G |
Col11a1 |
collagen type XI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 37 |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 PMID:21035103 PMID:23922384 PMID:25240749 PMID:25741868 PMID:26377240 PMID:28315471 PMID:28492532 PMID:30245514 PMID:30311386 PMID:32381727 PMID:32427345 PMID:32578940 PMID:32756486 PMID:33169910 PMID:33605226 More...
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NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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|
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G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11298683 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12668604 PMID:12673800 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14676473 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16931589 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17309986 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17462767 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18316665 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18472371 PMID:18560174 PMID:18570691 PMID:18607988 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18758381 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19274344 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19567088 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19718752 PMID:19719946 PMID:19723508 PMID:19744334 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20031451 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20442751 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20854437 PMID:20863150 PMID:20890442 PMID:20937258 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21055240 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21484990 PMID:21488715 PMID:21510145 PMID:21557232 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21868108 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22704424 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 PMID:24387126 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25153233 PMID:25162826 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25752103 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27169813 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27398341 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28640090 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29196752 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29605365 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30275481 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30762455 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31379920 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31911633 PMID:31980526 PMID:31992338 PMID:32067424 PMID:32090102 PMID:32258544 PMID:32355288 PMID:32455934 PMID:32645618 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34276761 PMID:34335733 PMID:34403091 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35182233 PMID:35301649 PMID:35396755 PMID:35864128 PMID:36048236 PMID:36474027 PMID:36788145 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
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NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Gjb4 |
gap junction protein, beta 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 |
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NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
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G |
Cryl1 |
crystallin, lambda 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:27480936 PMID:28492532 |
|
NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
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G |
Eef1akmt1 |
EEF1A lysine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336
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G |
Gja3 |
gap junction protein, alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810
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G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Gjb6 |
gap junction protein, beta 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12419304 PMID:12788524 PMID:14708603 PMID:15213106 PMID:15769851 PMID:16547895 PMID:16950989 PMID:17160938 PMID:17259707 PMID:17666888 PMID:19723508 PMID:20536673 PMID:20858605 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30311386 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939 More...
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NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582
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G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Il17d |
interleukin 17D |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr15:31,671,337...31,688,833
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G |
Xpo4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908
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G |
Crym |
crystallin, mu |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 40 |
OMIM ClinVar |
PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:174,560,423...174,575,660
Ensembl chr 1:174,560,416...174,575,633
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G |
P2rx2 |
purinergic receptor P2X 2 |
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ISO ISS |
ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition OMIM:608224 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 PMID:25788561 PMID:26467025 PMID:28492532 PMID:31636190 More...
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NCBI chr12:46,338,979...46,342,891
Ensembl chr12:46,339,549...46,342,891
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G |
Ccdc50 |
coiled-coil domain containing 50 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 44 DNA:duplication:cds:c.1394_1401dupCACGGCAT(human) |
OMIM CTD ClinVar RGD |
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 PMID:28492532 PMID:30311386 PMID:17503326 More...
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RGD:9685138 |
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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G |
Myo1a |
myosin IA |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 48 |
ClinVar |
PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 |
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NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944
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G |
Ceacam16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISS |
OMIM:600652 |
MouseDO |
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NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
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G |
Myh14 |
myosin heavy chain 14 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition |
OMIM ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27068579 PMID:27393652 PMID:27610647 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 PMID:31393079 PMID:34681017 More...
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NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
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G |
Ceacam16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4b |
OMIM ClinVar |
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
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NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
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G |
Gsdme |
gasdermin E |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 PMID:24033266 PMID:24164807 PMID:25741868 PMID:28492532 PMID:29266521 PMID:29849037 PMID:30311386 PMID:34906502 PMID:35114279 More...
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NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806
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G |
Mir96 |
microRNA 96 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 50 |
OMIM ClinVar |
PMID:14757864 PMID:19363479 |
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NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516
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G |
Tjp2 |
tight junction protein 2 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28924228 PMID:29238877 More...
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NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295
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G |
Pappa |
pappalysin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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G |
Tnc |
tenascin C |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition |
OMIM ClinVar |
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29531218 PMID:30311386 PMID:31190668 PMID:36597107 More...
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NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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G |
Tnfsf8 |
TNF superfamily member 8 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
|
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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G |
Cnrip1 |
cannabinoid receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr14:91,462,877...91,492,739
Ensembl chr14:91,462,647...91,492,735
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G |
Plek |
pleckstrin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr14:91,397,015...91,429,693
Ensembl chr14:91,397,019...91,454,131
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G |
Ppp3r1 |
protein phosphatase 3, regulatory subunit B, alpha |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr14:91,556,743...91,606,391
Ensembl chr14:91,604,121...91,606,907
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Wfs1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12490066 PMID:12565131 PMID:12707188 PMID:12754709 PMID:12782971 PMID:12955714 PMID:15008830 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:15912360 PMID:16151413 PMID:16408729 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21127832 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:22938506 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25262649 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26064370 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28974383 PMID:28993341 PMID:29529044 PMID:29563951 PMID:29632382 PMID:29988211 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30577886 PMID:30773290 PMID:31264968 PMID:31313226 PMID:31363008 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31765440 PMID:31980526 PMID:32350710 PMID:32567228 PMID:32883240 PMID:33046911 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34445196 PMID:34556497 PMID:34737607 PMID:34746052 PMID:34789499 PMID:34803393 PMID:34837038 PMID:35206658 PMID:35452662 PMID:35469785 PMID:35472603 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 PMID:37508961 PMID:37510321 More...
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NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G |
B3gnt4 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:33,070,221...33,073,904
Ensembl chr12:33,060,416...33,073,854
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G |
Diablo |
diablo, IAP-binding mitochondrial protein |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
OMIM ClinVar |
PMID:21722859 PMID:25741868 PMID:28492532 |
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NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387
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G |
Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 65 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 More...
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 65 |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24729539 PMID:24729547 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27669036 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:29100083 PMID:29358611 PMID:30108545 PMID:30311386 PMID:30335140 PMID:30680869 PMID:30776697 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:32004315 PMID:33063868 PMID:33281559 PMID:33619735 PMID:33986365 PMID:35350397 More...
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NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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Cd164 |
CD164 molecule |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 |
OMIM ClinVar |
PMID:25741868 PMID:26197441 |
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NCBI chr20:45,024,051...45,035,628
Ensembl chr20:45,023,973...45,035,634
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G |
Osbpl2 |
oxysterol binding protein-like 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 67 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:25759012 PMID:28492532 |
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NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219
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G |
Homer2 |
homer scaffold protein 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 68 |
OMIM ClinVar |
PMID:25741868 PMID:25816005 PMID:30047143 |
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NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772
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G |
Kitlg |
KIT ligand |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 |
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NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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G |
Lmx1a |
LIM homeobox transcription factor 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant 7 |
OMIM CTD ClinVar |
PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 |
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NCBI chr13:79,834,614...79,978,253
Ensembl chr13:79,835,019...79,978,253
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G |
Mcm2 |
minichromosome maintenance complex component 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 70 |
OMIM ClinVar |
PMID:25741868 PMID:26196677 PMID:28492532 |
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NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
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G |
Dmxl2 |
Dmx-like 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 71 |
OMIM ClinVar |
PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 PMID:36633841 More...
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NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
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G |
Slc44a4 |
solute carrier family 44, member 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 72 |
OMIM ClinVar |
PMID:25741868 PMID:28013291 PMID:28492532 |
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NCBI chr20:3,903,099...3,919,215
Ensembl chr20:3,903,099...3,919,215
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G |
Ptprq |
protein tyrosine phosphatase, receptor type, Q |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:29309402 |
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NCBI chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917
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G |
Pde1c |
phosphodiesterase 1C |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 74 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29860631 |
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NCBI chr 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219
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G |
Trrap |
transformation/transcription domain-associated protein |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 75 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31231791 |
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NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
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G |
Pls1 |
plastin 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition |
OMIM ClinVar |
PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 PMID:36537221 More...
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NCBI chr 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 77 |
OMIM ClinVar |
PMID:31273342 |
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NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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G |
Slc12a2 |
solute carrier family 12 member 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 78 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 |
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NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
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Greb1l |
GREB1 like retinoic acid receptor coactivator |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29100090 PMID:29955957 PMID:32378186 PMID:32585897 More...
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NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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G |
Myo7a |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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G |
Elmod3 |
ELMO domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 81 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29713870 |
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NCBI chr 4:104,614,665...104,653,122
Ensembl chr 4:104,614,676...104,653,053
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G |
Atp2b2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30535804 |
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NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
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G |
Map1b |
microtubule-associated protein 1B |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 83 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33268592 |
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NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
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